Canonical Allele Identifier: CA361706721
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149360146G>C (hg19) chr5:g.149980583G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980583G>C , CM000667.2:g.149980583G>C GRCh38
NC_000005.9:g.149360146G>C , CM000667.1:g.149360146G>C GRCh37
NC_000005.8:g.149340339G>C NCBI36
NG_007147.2:g.21701G>C , LRG_684:g.21701G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.990G>C MANE Select ENSP00000286298.4:p.Lys330Asn
ENST00000286298.4:c.990G>C ENSP00000286298.4:p.Lys330Asn
ENST00000503336.1:c.372+2232G>C ENSP00000426053.1:n.372+2232G>C
NM_000112.3:c.990G>C , LRG_684t1:c.990G>C NP_000103.2:p.Lys330Asn
XM_017009191.2:c.990G>C XP_016864680.1:p.Lys330Asn
NM_000112.4:c.990G>C MANE Select NP_000103.2:p.Lys330Asn
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